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Genetics More than just science: one family’s story of a chromosome translocation diagnosis Results of genetic tests may have a significant psychosocial impact on the family, as one family and the genetic nurse who worked with them report and feeding her became a nightmare, with projectile vomiting all over the carpet. The health visitor kept saying: ‘What does the paediatrician say?’ At six months, Sarah had some tests but the doctors could find ‘nothing wrong’. As I was to learn later, this didn’t mean there was nothing wrong with her, but just that the tests didn’t show anything. Dr Heather Skirton, Reader in Across the UK, there is a network of NHS genetic servic- By the time Sarah was ten months-old, I found out Health Genetics, Faculty of es to which families may be referred for a number of rea- about the local opportunity group. The physiotherapist Health and Social Work, sons, for example because of a family history of cancer or and all the staff at this group were such a help. They helped University of Plymouth to seek a cause for their child’s developmental delay. In the Sarah to develop to her full potential and helped me to past, advice might have been based solely on a clinical help her. Although she lived until she was two and a half, diagnosis, but new technologies often now enable a defin- she only ever stood up holding on to furniture, never itive diagnosis of a genetic condition to be made, based walked and never learnt any words. The main thing was on genetic or chromosome testing. This information may that she didn’t grow and, looking at photos of her now, I have a significant psychosocial impact on family mem- don’t see much difference from year to year – I can’t tell The second and third authors bers. Grief and feelings of guilt are frequently described the difference between her first and second summer. have chosen to use by parents. The use of genetic testing for diagnosis is increas- When Sarah was about 18 months-old, the paediatri- pseudonyms and to alter some ing, but it is the exchange of information between families cian arranged for her to have an assessment. Two syn- family information to protect and clinical practitioners that forms the crux of the work of dromes the confidentiality of other the genetic services. Genetic nurses and counsellors believe Smith-Lemli-Opitz (SLO) – but I left the hospital without family members. that an important component of their role is to provide psy- a decisive answer. The diagnosis mattered because Prader- chological support to families as they adjust to that infor- Willi is a one-off condition, while SLO has a one-in-four mation and sometimes have to make difficult decisions chance of recurrence in each pregnancy. Finally, it was (Skirton et al 1997). This case study has been written as a decided it was Prader-Willi and so on the strength of this co-operative project between one family and the genetic we went ahead and had another child. This was a similar nurse who had clinical contact with that family. The sto- pregnancy, but I did feel a small amount of movement. ry starts 25 years before the referral … During this time, I held the conviction that if God was Richard Evans Elizabeth Evans were suggested – Prader-Willi and with me, all would be well, whatever happened, and so at Elizabeth’s story KEY WORDS the birth although I was shocked, I wasn’t devastated. I had experienced one miscarriage and so was very pleased When Ted was born, he had a hare lip and cleft palate, to be pregnant, but I felt something was wrong during but he didn’t look very like Sarah. Because he had these Sarah’s pregnancy. I was so small for dates and didn’t feel abnormalities, however, we immediately thought, here is the baby move. When Sarah was born, her ‘Apgar’ read- another baby with Sarah’s problems. I thought, how can I ing was very low. Around her face, she didn’t look like the bottlefeed this child even with a special bottle? Ted never Genetic counselling other newborns and I insisted on seeing the paediatrician left hospital, though, and because of a serious heart con- Family care because she was different. She was very slow to gain weight dition he lived just one month. Immediately after his birth, 18 Paediatric Nursing vol 16 no 10 December 2004 Genetics we thought that his diagnosis should have been SLO and to hand. It seems to us that the decision would have been so we assumed we were both carriers of this gene. not to try for another child, because not only are the risks After Ted died, I visited my younger sister and we went of a child with an unbalanced chromosome translocation out into town in the winter. I think it must have been very high, but also having a child with balanced chromo- around then that Sarah caught the pneumonia that was somes like myself is a high possibility. This hypothetical fatal. Sarah died a month after Ted, aged two and a half. child would have had very difficult decisions to make about We visited the genetics clinic, where we were told that having a family and so I would have been passing on a we were probably carriers of SLO and that another preg- very heavy burden to him or her. nancy would carry a one-in-four risk. One option that was The ‘whys’ have been answered scientifically, but not suggested was artificial insemination by donor, but we eternally, so it’s not the end of the story yet. I’ll have to didn’t want to consider this. Since the two pregnancies wait patiently, trusting God, and see how much of the sto- had come up with what we saw as the ‘full-blown genet- ry he will reveal to me when I see him and the children ic version’ of the problem, we decided it was too risky to in heaven. try for another child. I continued going to the opportunity group as an escort Richard’s story and a helper as I tried to get my life together. Eventually I My experience as a father was to be a disappointment, took my place in the world, where friends and contacts had because the normal feelings of a new father were always children and did family things while I was a spectator. to be denied me. For me, the pride and excitement of my Many, many people were very, very kind and we got used own child being born was very shortlived; hopes and pleas- to explaining why we hadn’t got a family and how it would ures were dashed within minutes on both occasions at have been different if either of us had married anyone else. the point of birth in the delivery room. These unfulfilled Recently my younger sister consulted a geneticist hopes have left a big gap ever since, and some of them I through her GP for the sake of her two adult children. believe I do not even know about. That emotional sense This geneticist suggested a chromosome test to check for of joy did not come my way. translocations for her, myself and our other sister. Right from those early days through to the present time, As a result of this, my husband and I both had our chro- a sense of loneliness has been very real to me. At first, it mosomes looked at earlier this year. I was found to have a was the separation from friends who, although they showed ‘balanced translocation’, while Richard’s chromosomes were kindness and were full of sympathy, left us on our own. I normal. My two sisters’ chromosomes were also normal. think this was because I had gone beyond a certain point So, after more than 25 years, the mystery was revealed After more than 25 years, the mystery was revealed through modern science – what we had assumed about our children was wrong through modern science and what we had been assuming all those years about our children was wrong. By this time, most new people we met thought our children were grown up and had left home, and our friends were becoming grandparents. Seeing all this is hard, as I had to be brave when friends were having babies of their own and now I have to continue to be brave when I see the pleasures of grandparenting. Mainly I am relieved to know the real story and I am adjusting to the new information that I am the cause of the problem and it is not caused by both of us. I am glad that I didn’t know all the facts soon after the children’s deaths for several reasons. One is that the combination of the bereavements and the knowledge that I was the cause would have pulled me down and would have taken me longer to go out into the world. In addition, accurate knowledge of the real prob- ALAMY lem after the children’s deaths would have made us have to consider a third pregnancy with different information vol 16 no 10 December 2004 Paediatric Nursing 19 Genetics where they could not come with me. I had lost companions given us many good friends and experiences we never in life, those friends who previously felt they could compare expected, and we look forward to the time when in heav- themselves with me. On most occasions we found in relat- en, we shall be with our children again. ing our losses to them, it would always have to be us giving Genetic testing cannot be seen as a single event, but as one component in the continuum of the family’s experience The nurse’s story Elizabeth and Richard were referred to the genetics service by their GP. Elizabeth’s sister had asked her to have a chromosome test after undergoing genetic counselling in another area of the country. them encouragement and help in order to accept and under- The referral letter stated that Elizabeth and Richard had stand what had happened to us. We both felt we had to fight two children who died in infancy. The children had been through and survive together and the support we gave to diagnosed with SLO syndrome, but the geneticist who each other was immeasurable. saw her sister felt that a chromosome test would help clar- As Sarah was growing (in her way), I had a very deep love and attachment to her and as there was no other child to ify whether her future children might be at risk of a genetic condition. compare her with, I was naturally filled with great hope for At our first meeting, I drew a family tree. The couple told her future, as if she were our normal daughter. Nobody had me that they had two children, and that neither had lived any idea how to help us. We, in fact, were never given any beyond the age of two years. Elizabeth and Richard described prognosis that was to be detrimental about her future life their children and at the time I made notes (see box 1). and even the doctors kept saying ‘we can’t find anything Elizabeth and Richard told me that initially it had been wrong with her’, so we thought she was going to eventual- suggested that Sarah had a condition called Prader-Willi ly pull through … How misleading this information was! syndrome. The genetic mechanism behind this syndrome The gaps continue, and in our case they will never go is quite complex (Nativio 2002) as the gene fault occurs in away because there are no other children to make a fam- an imprinted area on chromosome 15 (Skirton and Patch ily. I have no extended family that I can be proud of as my 2002). As Sarah was very hypotonic (floppy) and small at own – for us there are no normal Christmases. Ted was birth, this was a potential diagnosis (Jones 1997). It soon born on December 24, so this is still a time of the year ‘to became clear, however, that this was not correct and anoth- get through’. er diagnosis, that of SLO syndrome, was suggested. Now, and after all these years, we are still together and SLO syndrome is a condition in which children have our love for each other has deepened. We can see now abnormalities in many body systems, caused by a defect how God, who was faithful to us all the way through, has in the biosynthesis of cholesterol (Kelley 2000, Danzer et al 2000). Children with the syndrome are generally small Box 1: Genetic nurse’s clinical notes from first meeting with family at birth, have altered muscle tone and unusual facies (Jones Sarah Ted 1997). For recessive conditions, both parents are carriers ❘❚❘ Small for dates during the ❘❚❘ Small for dates during pregnancy of a faulty gene, and in each pregnancy there is a 25 per ❘❚❘ Birth weight at term was 3-4 pounds cent chance that the fetus will inherit the condition (Skirton ❘❚❘ Low Apgar scores at birth ❘❚❘ Cleft lip and palate and Patch 2002). ❘❚❘ Extreme failure to thrive ❘❚❘ Hole in heart (septal defect) ❘❚❘ Didn’t look like family ❘❚❘ Abnormal genitalia any more information we could provide about the causes ❘❚❘ Serious feeding problems ❘❚❘ Floppy muscle tone (hypotonia) of the children’s problems. They agreed to send photos of ❘❚❘ Floppy muscle tone (hypotonia) ❘❚❘ Died before 4 weeks of age from Sarah, but it was very poignant to hear that Ted had not pregnancy and at birth ❘❚❘ No speech at all Elizabeth and Richard were keen to discover if there was ever come home from hospital and there had never been heart problem an opportunity to take his photograph. ❘❚❘ Delayed motor milestones Blood was taken at this meeting for chromosome analy- ❘❚❘ Died at 30 months from perforated sis (karyotype) of both parents. The lymphocytes are cul- stomach and pneumonia tured and the chromosomes studied down the microscope ❘❚❘ Found at post-mortem to have a (Gardner et al 2000). rotated gut and heart problem I was able to retrieve some notes from the hospital where 20 Paediatric Nursing vol 16 no 10 December 2004 Genetics Sarah and Ted had been treated 28 years previously. These notes confirmed that Sarah had short stature and mental Key points retardation. Ted had short limbs, cleft lip and palate, small ❘❚❘ Chromosome abnormalities can occur sporadically thyroid, ventricular septal defect and truncus arteriosus. ❘❚❘ Some chromosomal abnormalities arise when the parent has a balanced The results of the parental karyotypes reported that Richard’s chromosome structure was normal male (46, XY), but Elizabeth was found to have a balanced chromosome translocation. Part of the long arm of chromosome 22 had swapped places with part of the long arm of chromosome 14. The amount of chromosomal material was balanced in Elizabeth, but any ovum she produced might contain an unbalanced chromosome structure. chromosome translocation and the child inherits an unbalanced amount of chromosomal material ❘❚❘ An unbalanced chromosome structure usually results in physical and mental developmental problems ❘❚❘ Genetic testing can have serious psychological consequences for those found to carry an unusual gene or chromosome arrangement ❘❚❘ Support for patients through a period of testing and adjustment is part of the nursing role I was concerned about giving this news to Elizabeth. She had lost her only two children, and I felt that the news that they may have inherited an unbalanced chromosome structure from her would be difficult for her to hear. been changed had the translocation been found earlier. Elizabeth and Richard were prepared to undergo testing for the sake of others in the family and much of the At our next appointment, Elizabeth told me how she worry for the younger members of the family has been had been feeling fragile about the result. She read a poem relieved. If the translocation had been present in other fam- that described so vividly her feelings and the faith that ily members, the identification of this could have enabled made it possible to bear her sorrow. I felt so moved by her the carrier to make informed decisions about future fam- sharing of such personal thoughts. ily. In a study of families having genetic counselling (Skirton The geneticist had been able to determine the different 2001), most families who accepted a genetics referral felt potential chromosome abnormalities that could result from that bad news was preferable to uncertainty. Both Elizabeth meiosis with the particular balanced translocation in this and Richard have said that the knowledge about the cause family. When looking at the literature, it was startling to see of their children’s deaths has been helpful to them. a picture of a child with one possible arrangement. It was like looking at Sarah. It is obviously not possible to say with Conclusion certainty, but it does seem likely that both Sarah and Ted This case study demonstrates the lifetime effect of a genet- had unbalanced arrangements of chromosomes 14 and 22. ic condition in one family. Genetic testing cannot be seen Elizabeth and Richard made a decision not to have fur- as a single event, but as one component in the continu- ther family all those years ago, based on a one-in-four um of the family’s experience. All nurses working with a recurrence risk. The risk of them having a child with an family have a responsibility to support families through unbalanced chromosome arrangement was now assessed any testing process and to acknowledge the psychological to be about 35 per cent in each pregnancy. It seemed to aspects of testing. This requires a basic knowledge of genet- be a relief to them to know that the risk would have been ics and competence in communication skills. Through even higher than they had thought when they made their exploration of the implications of testing, informed con- decision. This higher risk affirmed for them that their sent for testing can be obtained and the family offered appropriate support in adjusting to the results PN original decision was the right one and would not have REFERENCES Danzer E et al (2000) Smith-LemliOpitz syndrome: case report and literature review. Journal of Pediatric Surgery. 35, 12, 1840-1842 Gardner A et al (2000) Human Genetics. London, Arnold. Jones KL (1997) Smith’s Recognizable Patterns of Human Malformation. Fifth Edition. Philadelphia, WB Saunders. vol 16 no 10 December 2004 Kelley RI (2000) Inborn errors of cholesterol biosynthesis. Advances in Pediatrics. 47, 1-53. Nativio DG (2002) The genetics, diagnosis, and management of PraderWilli syndrome. Journal of Pediatric Health Care. 16, 6, 298-303. Skirton H (2001) The client’s perspective of genetic counseling – A grounded theory study. Journal of Genetic Counseling. 10, 4, 311-329. Skirton H, Patch C (2002) Genetics for Healthcare Professionals – A Lifestage Approach. Oxford, BIOS. Skirton H et al (1997) The role and practice of the genetic nurse. Journal of Medical Genetics. 34, 2, 141-147. Paediatric Nursing 21